Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 15857 | chrX | 41347846 | ATTT | A |
c.*135_*137del
|
-
|
- | 3.0 |
|
B | |
| 33414 | chrX | 41357948 | G | A |
c.2081G>A
|
p.Arg694Lys
|
- | 3.0 |
|
B | |
| 4797 | chrX | 43778723 | C | T |
c.1096G>A
|
p.Glu366Lys
|
- | 3.0 |
|
B | |
| 11438 | chrX | 44873597 | G | A |
c.46G>A
|
p.Ala16Thr
|
- | 3.0 |
|
B | |
| 33564 | chrX | 44873605 | CG | C |
c.56del
|
p.Gly19ValfsTer23
|
- | 4.0 |
|
B | |
| 20438 | chrX | 44873663 | TC | T |
c.117del
|
p.Ser40AlafsTer2
|
- | 4.0 |
|
B | |
| 23373 | chrX | 44873941 | T | G |
c.179T>G
|
p.Val60Gly
|
- | 3.0 |
|
B | |
| 29812 | chrX | 44873961 | G | T |
c.199G>T
|
p.Ala67Ser
|
3.0 |
|
B | ||
| 24382 | chrX | 44961312 | T | G |
c.254T>G
|
p.Leu85Ter
|
- | 4.0 |
|
B | |
| 31859 | chrX | 44961357 | G | GTCACTTCAACCTCTTATTGGAA |
c.300_321dup
|
p.Asp108SerfsTer25
|
- | 4.0 |
|
B | |
| 10400 | chrX | 44974679 | C | A |
c.348C>A
|
p.Tyr116Ter
|
- | 4.5 |
|
B | |
| 15689 | chrX | 45010947 | C | T |
c.385-14C>T
|
-
|
- | 3.0 |
|
B | |
| 21 | chrX | 45020609 | G | T |
c.444-1G>T
|
p.?
|
- | 4.12 |
|
S | |
| 5465 | chrX | 45020681 | G | C |
c.515G>C
|
p.Arg172Pro
|
- | 3.0 |
|
B | |
| 5347 | chrX | 45034980 | C | CT |
c.615dup
|
p.Glu206Ter
|
- | 4.0 |
|
B | |
| 5826 | chrX | 45051750 | GCAGA | G |
c.701_704del
|
p.Thr234ArgfsTer7
|
- | 4.0 |
|
B | |
| 2004 | chrX | 45053891 | C | T |
c.811C>T
|
p.Gln271Ter
|
- | 4.0 |
|
B | |
| 8520 | chrX | 45053900 | C | T |
c.820C>T
|
p.Gln274Ter
|
- | 4.0 |
|
B | |
| 31113 | chrX | 45059003 | C | T |
c.876-3C>T
|
-
|
- | 3.0 |
|
B | |
| 9513 | chrX | 45059014 | C | T |
c.884C>T
|
p.Ser295Leu
|
- | 3.0 |
|
B |